Insulin-like growth factor 1 receptor
The IGFR1 gene ancodes a receptor with tyrosin kinase activity that is primarilly stimulated by IGF1. Mutations result in autosomal dominant or recessive IGF1 resistance. Also the receptor seems to play a role in apoptosis. It is abundantly found in some cancer tissues.
Genetests:
Related Diseases:
References:
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None () Functional inactivation of genes by dominant negative mutations.
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Ueki K et al. (2006) Total insulin and IGF-I resistance in pancreatic beta cells causes overt diabetes.
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Poduslo SE et al. (1991) Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis.
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Lou M et al. (2006) The first three domains of the insulin receptor differ structurally from the insulin-like growth factor 1 receptor in the regions governing ligand specificity.
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Salehi-Ashtiani K et al. (2006) A genomewide search for ribozymes reveals an HDV-like sequence in the human CPEB3 gene.
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Cooke DW et al. (1991) Analysis of the human type I insulin-like growth factor receptor promoter region.
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Inagaki K et al. (2007) A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization.
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Bendall SC et al. (2007) IGF and FGF cooperatively establish the regulatory stem cell niche of pluripotent human cells in vitro.
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Suh Y et al. (2008) Functionally significant insulin-like growth factor I receptor mutations in centenarians.
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Walenkamp MJ et al. (2008) Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
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Roback EW et al. (1991) An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.
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Rasmussen SK et al. (2000) Studies of the variability of the genes encoding the insulin-like growth factor I receptor and its ligand in relation to type 2 diabetes mellitus.
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Ullrich A et al. (1986) Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity.
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Flier JS et al. (1986) Monoclonal antibody to the type I insulin-like growth factor (IGF-I) receptor blocks IGF-I receptor-mediated DNA synthesis: clarification of the mitogenic mechanisms of IGF-I and insulin in human skin fibroblasts.
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Francke U et al. (1986) Chromosomal mapping of genes involved in growth control.
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Howard TK et al. (1993) The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours.
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Ogawa O et al. (1993) Human insulin-like growth factor type I and type II receptors are not imprinted.
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Liu JP et al. (1993) Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r).
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Werner H et al. (1996) Wild-type and mutant p53 differentially regulate transcription of the insulin-like growth factor I receptor gene.
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Dey BR et al. (1998) Cloning of human p55 gamma, a regulatory subunit of phosphatidylinositol 3-kinase, by a yeast two-hybrid library screen with the insulin-like growth factor-I receptor.
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Grant ES et al. (1998) The insulin-like growth factor type I receptor stimulates growth and suppresses apoptosis in prostatic stromal cells.
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Kawashima Y et al. (2005) Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.
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Maor SB et al. (2000) BRCA1 suppresses insulin-like growth factor-I receptor promoter activity: potential interaction between BRCA1 and Sp1.
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Tatar M et al. (2001) A mutant Drosophila insulin receptor homolog that extends life-span and impairs neuroendocrine function.
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Rotem-Yehudar R et al. (2001) Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29.
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Fernández AM et al. (2001) Functional inactivation of the IGF-I and insulin receptors in skeletal muscle causes type 2 diabetes.
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All-Ericsson C et al. (2002) Insulin-like growth factor-1 receptor in uveal melanoma: a predictor for metastatic disease and a potential therapeutic target.
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Kulkarni RN et al. (2002) beta-cell-specific deletion of the Igf1 receptor leads to hyperinsulinemia and glucose intolerance but does not alter beta-cell mass.
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Scott BA et al. (2002) Regulation of hypoxic death in C. elegans by the insulin/IGF receptor homolog DAF-2.
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Holzenberger M et al. (2003) IGF-1 receptor regulates lifespan and resistance to oxidative stress in mice.
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Lambooij AC et al. (2003) Insulin-like growth factor-I and its receptor in neovascular age-related macular degeneration.
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Giovannone B et al. (2003) Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling.
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Kondo T et al. (2003) Knockout of insulin and IGF-1 receptors on vascular endothelial cells protects against retinal neovascularization.
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Bonafè M et al. (2003) Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control.
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Abbott AM et al. (1992) Insulin-like growth factor I receptor gene structure.
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Prager D et al. (1992) Human insulin-like growth factor I receptor function in pituitary cells is suppressed by a dominant negative mutant.
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Nef S et al. (2003) Testis determination requires insulin receptor family function in mice.
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Abuzzahab MJ et al. (2003) IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
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Okubo Y et al. (2003) Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.
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Wessells RJ et al. (2004) Insulin regulation of heart function in aging fruit flies.
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Raile K et al. (2006) Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.
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NCBI article
NCBI 3480
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OMIM.ORG article
Omim 147370
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Orphanet article
Orphanet ID 138578
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Wikipedia article
Wikipedia EN (Insulin-like_growth_factor_1_receptor)
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Update: Aug. 14, 2020